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Dicarboxylic aminoaciduria(DCBXA)

MedGen UID:
387782
Concept ID:
C1857253
Disease or Syndrome
Synonyms: DCBXA; Dicarboxylicaminoaciduria; GLUTAMATE-ASPARTATE TRANSPORT DEFECT
SNOMED CT: Dicarboxylic aminoaciduria syndrome (716747007); Glutamate aspartate transport defect (716747007)
 
SLC1A1 (9p24.2)
 
Monarch Initiative: MONDO:0009110
OMIM®: 222730
Orphanet: ORPHA2195

Definition

Dicarboxylic aminoaciduria (DCBXA) is characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. Patients may have impaired intellectual development (summary by Bailey et al., 2011). [from OMIM]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDicarboxylic aminoaciduria

Recent clinical studies

Etiology

Bröer S
Physiology (Bethesda) 2008 Apr;23:95-103. doi: 10.1152/physiol.00045.2007. PMID: 18400692

Diagnosis

Camargo SM, Bockenhauer D, Kleta R
Kidney Int 2008 Apr;73(8):918-25. Epub 2008 Jan 16 doi: 10.1038/sj.ki.5002790. PMID: 18200002

Clinical prediction guides

Swarna M, Jyothy A, Usha Rani P, Reddy PP
Biochem Genet 2004 Apr;42(3-4):85-98. doi: 10.1023/b:bigi.0000020464.05335.79. PMID: 15168722

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